QuickView for KMT2A (gene)

Gene Symbol:

KMT2A Homo sapiens

Full name:

lysine methyltransferase 2A

Synonyms:

ALL-1, CXXC7, HRX, HTRX1, MLL, MLL1, MLL1A, TRX1, WDSTS, histone-lysine N-methyltransferase 2A, CXXC-type zinc finger protein 7, lysine (K)-specific methyltransferase 2A, lysine N-methyltransferase 2A, mixed lineage leukemia 1, myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila), trithorax-like protein, zinc finger protein HRX

Genomic Location:

Chr 11: 117812415-117901146

Description:

This gene encodes a transcriptional coactivator that plays an essential role in regulating gene expression during early development and hematopoiesis. The encoded protein contains multiple conserved functional domains. One of these domains, the SET domain, is responsible for its histone H3 lysine 4 (H3K4) methyltransferase activity which mediates c...

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This gene encodes a transcriptional coactivator that plays an essential role in regulating gene expression during early development and hematopoiesis. The encoded protein contains multiple conserved functional domains. One of these domains, the SET domain, is responsible for its histone H3 lysine 4 (H3K4) methyltransferase activity which mediates chromatin modifications associated with epigenetic transcriptional activation. This protein is processed by the enzyme Taspase 1 into two fragments, MLL-C and MLL-N. These fragments reassociate and further assemble into different multiprotein complexes that regulate the transcription of specific target genes, including many of the HOX genes. Multiple chromosomal translocations involving this gene are the cause of certain acute lymphoid leukemias and acute myeloid leukemias. Alternate splicing results in multiple transcript variants.

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Orthologs:

Mus musculus ,  Rattus norvegicus ,  Macaca mulatta ,  Gallus gallus ,  Pan troglodytes ,  Canis lupus familiaris ,  Bos taurus ,  Danio rerio

External Links:

Entrez Gene

Transcription Factor
Binding Sites:

TGGAAA_NFAT_Q4_01 ,  CACTGTG_MIR128A_MIR128B ,  GTATTAT_MIR3693P ,  AGCYRWTTC_UNKNOWN ,  GAGCCTG_MIR484 ,  GCATTTG_MIR105 ,  ETS_Q4 ,  RYTTCCTG_ETS2_B ,  ARNT_01 ,  AAAGGGA_MIR204_MIR211 ,  NFAT_Q6 ,  MYC_Q2 ,  HEN1_01 ,  SYATTGTG_UNKNOWN ,  CACGTG_MYC_Q2 ,  GCANCTGNY_MYOD_Q6 ,  AGCACTT_MIR93_MIR302A_MIR302B_MIR302C_MIR302D_MIR372_MIR373_MIR520E_MIR520A_MIR526B_MIR520B_MIR520C_MIR520D ,  MAX_01 ,  TGTGTGA_MIR377 ,  AREB6_04 ,  SRY_01 ,  TGTTTAC_MIR30A5P_MIR30C_MIR30D_MIR30B_MIR30E5P ,  GTACTGT_MIR101 ,  CAGCACT_MIR5123P ,  TTGCACT_MIR130A_MIR301_MIR130B ,  SREBP1_Q6 ,  AAGCAAT_MIR137 ,  PBX1_01 ,  MAF_Q6 ,  TGACCTY_ERR1_Q2 ,  ACTGTGA_MIR27A_MIR27B ,  ATAGGAA_MIR202 ,  GGGAGGRR_MAZ_Q6 ,  GTGTGAG_MIR342 ,  CDPCR3HD_01 ,  MYCMAX_02 ,  STAT3_02 ,  TTGGAGA_MIR5155P_MIR519E ,  PAX2_01 ,  TGCACTG_MIR148A_MIR152_MIR148B ,  TGCGCANK_UNKNOWN ,  GAGCTGG_MIR337 ,  HNF4_Q6 ,  MYCMAX_01 ,  CDPCR1_01 ,  ATGTTTC_MIR494 ,  GTGCCAA_MIR96 ,  CCCNNGGGAR_OLF1_01 ,  CTCTGGA_MIR520A_MIR525 ,  IRF_Q6 ,  TGTTTGY_HNF3_Q6 ,  CAGCAGG_MIR370 ,  GGCNNMSMYNTTG_UNKNOWN ,  MYB_Q6 ,  GTGCCTT_MIR506 ,  TTGCCAA_MIR182 ,  TTGTTT_FOXO4_01 ,  AP2REP_01 ,  AAAYRNCTG_UNKNOWN ,  MSX1_01 ,  GTGTCAA_MIR514 ,  HEN1_02 ,  RGTTAMWNATT_HNF1_01 ,  GTGGGTGK_UNKNOWN ,  GGCCAGT_MIR193A_MIR193B ,  AAGCACT_MIR520F ,  CAGCTG_AP4_Q5 ,  USF2_Q6 ,  TGGTGCT_MIR29A_MIR29B_MIR29C ,  P300_01 ,  AACTTT_UNKNOWN ,  TGCTGCT_MIR15A_MIR16_MIR15B_MIR195_MIR424_MIR497 ,  ETS1_B ,  FOXO4_02 ,  ACACTAC_MIR1423P ,  GGGTGGRR_PAX4_03 ,  GTCAACC_MIR3805P ,  AAGCACA_MIR218 ,  ATGTAGC_MIR221_MIR222 ,  TCF11_01 ,  LBP1_Q6

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miRNA binding sites
(Source: TargetScan):

Predicted Gene Targets for miR-101 ,  Predicted Gene Targets for miR-128 ,  Predicted Gene Targets for miR-130 ,  Predicted Gene Targets for miR-136 ,  Predicted Gene Targets for miR-142-3p ,  Predicted Gene Targets for miR-148 ,  Predicted Gene Targets for miR-150 ,  Predicted Gene Targets for miR-193 ,  Predicted Gene Targets for miR-218 ,  Predicted Gene Targets for miR-221 ,  Predicted Gene Targets for miR-27 ,  Predicted Gene Targets for miR-30 ,  Predicted Gene Targets for miR-338 ,  Predicted Gene Targets for miR-342 ,  Predicted Gene Targets for miR-369-3p ,  Predicted Gene Targets for miR-370 ,  Predicted Gene Targets for miR-377 ,  Predicted Gene Targets for miR-381 ,  Predicted Gene Targets for miR-494 ,  Predicted Gene Targets for miR-93 ,  Predicted Gene Targets for miR-96 ,  Predicted Gene Targets for miR-124a ,  Predicted Gene Targets for miR-137 ,  Predicted Gene Targets for miR-182 ,  Predicted Gene Targets for miR-380-5p ,  Predicted Gene Targets for miR-495 ,  Predicted Gene Targets for miR-496

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Cytogenetic Map:

11q23.3

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